TY - JOUR
T1 - CRISPR
T2 - a versatile tool for both forward and reverse genetics research
AU - Gurumurthy, Channabasavaiah B.
AU - Grati, M’hamed
AU - Ohtsuka, Masato
AU - Schilit, Samantha L.P.
AU - Quadros, Rolen M.
AU - Liu, Xue Zhong
PY - 2016/9/1
Y1 - 2016/9/1
N2 - Human genetics research employs the two opposing approaches of forward and reverse genetics. While forward genetics identifies and links a mutation to an observed disease etiology, reverse genetics induces mutations in model organisms to study their role in disease. In most cases, causality for mutations identified by forward genetics is confirmed by reverse genetics through the development of genetically engineered animal models and an assessment of whether the model can recapitulate the disease. While many technological advances have helped improve these approaches, some gaps still remain. CRISPR/Cas (clustered regularly interspaced short palindromic repeats/CRISPR-associated), which has emerged as a revolutionary genetic engineering tool, holds great promise for closing such gaps. By combining the benefits of forward and reverse genetics, it has dramatically expedited human genetics research. We provide a perspective on the power of CRISPR-based forward and reverse genetics tools in human genetics and discuss its applications using some disease examples.
AB - Human genetics research employs the two opposing approaches of forward and reverse genetics. While forward genetics identifies and links a mutation to an observed disease etiology, reverse genetics induces mutations in model organisms to study their role in disease. In most cases, causality for mutations identified by forward genetics is confirmed by reverse genetics through the development of genetically engineered animal models and an assessment of whether the model can recapitulate the disease. While many technological advances have helped improve these approaches, some gaps still remain. CRISPR/Cas (clustered regularly interspaced short palindromic repeats/CRISPR-associated), which has emerged as a revolutionary genetic engineering tool, holds great promise for closing such gaps. By combining the benefits of forward and reverse genetics, it has dramatically expedited human genetics research. We provide a perspective on the power of CRISPR-based forward and reverse genetics tools in human genetics and discuss its applications using some disease examples.
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U2 - 10.1007/s00439-016-1704-4
DO - 10.1007/s00439-016-1704-4
M3 - Article
C2 - 27384229
AN - SCOPUS:84978139145
VL - 135
SP - 971
EP - 976
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 9
ER -